CPSQ3
MCID: CRB095
MIFTS: 18

Cerebral Palsy, Spastic Quadriplegic, 3 (CPSQ3)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Cerebral Palsy, Spastic Quadriplegic, 3

MalaCards integrated aliases for Cerebral Palsy, Spastic Quadriplegic, 3:

Name: Cerebral Palsy, Spastic Quadriplegic, 3 56 29 6
Cpsq3 56 73
Cerebral Palsy, Spastic Quadriplegic 3 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
one consanguineous jordanian family with 4 affected sibs has been reported (last curated june 2016)


HPO:

31
cerebral palsy, spastic quadriplegic, 3:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



Summaries for Cerebral Palsy, Spastic Quadriplegic, 3

UniProtKB/Swiss-Prot : 73 Cerebral palsy, spastic quadriplegic 3: A form of cerebral palsy, a group of non-progressive disorders of movement and/or posture resulting from defects in the developing central nervous system. CPSQ3 is an autosomal recessive neurodevelopmental disorder characterized by variable spasticity and cognitive impairment.

MalaCards based summary : Cerebral Palsy, Spastic Quadriplegic, 3, also known as cpsq3, is related to spastic paraplegia 50, autosomal recessive. An important gene associated with Cerebral Palsy, Spastic Quadriplegic, 3 is ADD3 (Adducin 3). Related phenotypes are gray matter heterotopia and seizure

More information from OMIM: 617008 PS603513

Related Diseases for Cerebral Palsy, Spastic Quadriplegic, 3

Diseases in the Cerebral Palsy, Spastic Quadriplegic, 1 family:

Cerebral Palsy, Spastic Quadriplegic, 2 Cerebral Palsy, Spastic Quadriplegic, 3

Diseases related to Cerebral Palsy, Spastic Quadriplegic, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 50, autosomal recessive 11.8

Symptoms & Phenotypes for Cerebral Palsy, Spastic Quadriplegic, 3

Human phenotypes related to Cerebral Palsy, Spastic Quadriplegic, 3:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 gray matter heterotopia 31 occasional (7.5%) HP:0002282
2 seizure 31 occasional (7.5%) HP:0001250
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 cognitive impairment 31 HP:0100543
6 abnormal pyramidal sign 31 HP:0007256
7 spastic tetraplegia 31 HP:0002510
8 dysphagia 31 HP:0002015
9 nystagmus 31 HP:0000639
10 spastic diplegia 31 HP:0001264
11 poor speech 31 HP:0002465
12 exotropia 31 HP:0000577
13 supranuclear gaze palsy 31 HP:0000605

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
cognitive impairment
spastic diplegia
poor speech
spastic quadriplegia
more
Head And Neck Eyes:
nystagmus
strabismus
exotropia
supranuclear gaze palsy

Abdomen Gastrointestinal:
dysphagia

Head And Neck Head:
microcephaly, borderline

Clinical features from OMIM:

617008

Drugs & Therapeutics for Cerebral Palsy, Spastic Quadriplegic, 3

Search Clinical Trials , NIH Clinical Center for Cerebral Palsy, Spastic Quadriplegic, 3

Genetic Tests for Cerebral Palsy, Spastic Quadriplegic, 3

Genetic tests related to Cerebral Palsy, Spastic Quadriplegic, 3:

# Genetic test Affiliating Genes
1 Cerebral Palsy, Spastic Quadriplegic, 3 29

Anatomical Context for Cerebral Palsy, Spastic Quadriplegic, 3

Publications for Cerebral Palsy, Spastic Quadriplegic, 3

Articles related to Cerebral Palsy, Spastic Quadriplegic, 3:

# Title Authors PMID Year
1
Mutations in γ adducin are associated with inherited cerebral palsy. 56 6
23836506 2013

Variations for Cerebral Palsy, Spastic Quadriplegic, 3

ClinVar genetic disease variations for Cerebral Palsy, Spastic Quadriplegic, 3:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADD3 NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)SNV Pathogenic 242273 rs564185858 10:111882007-111882007 10:110122249-110122249

UniProtKB/Swiss-Prot genetic disease variations for Cerebral Palsy, Spastic Quadriplegic, 3:

73
# Symbol AA change Variation ID SNP ID
1 ADD3 p.Gly367Asp VAR_076996 rs564185858

Expression for Cerebral Palsy, Spastic Quadriplegic, 3

Search GEO for disease gene expression data for Cerebral Palsy, Spastic Quadriplegic, 3.

Pathways for Cerebral Palsy, Spastic Quadriplegic, 3

GO Terms for Cerebral Palsy, Spastic Quadriplegic, 3

Sources for Cerebral Palsy, Spastic Quadriplegic, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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